Canonical Allele Identifier: CA1948233112

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587600C= , CM000673.2:g.2587600C=	GRCh38
NC_000011.9:g.2608830C= , CM000673.1:g.2608830C=	GRCh37
NC_000011.8:g.2565406C=	NCBI36
NG_008935.1:g.147610C= , LRG_287:g.147610C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.802C=	ENSP00000434560.2:p.Pro268=
ENST00000646564.2:c.619C=	ENSP00000495806.2:p.Pro207=
ENST00000155840.12:c.1159C= MANE Select	ENSP00000155840.2:p.Pro387=
ENST00000335475.6:c.778C=	ENSP00000334497.5:p.Pro260=
ENST00000646564.1:c.265C=	ENSP00000495806.1:p.Pro89=
ENST00000155840.9:c.1159C=	ENSP00000155840.2:p.Pro387=
ENST00000335475.5:c.778C=	ENSP00000334497.5:p.Pro260=
NM_000218.2:c.1159C= , LRG_287t1:c.1159C=	NP_000209.2:p.Pro387=
NM_181798.1:c.778C= , LRG_287t2:c.778C=	NP_861463.1:p.Pro260=
NM_000218.3:c.1159C= MANE Select	NP_000209.2:p.Pro387=